Document Type
Article
Publication Date
10-24-2025
Abstract
BACKGROUND: Genetic testing has become more complex with the transition from single gene testing to multi-gene panels and whole-exome sequencing. The adoption of more complex genetic testing and the promise of precision medicine has created a critical and urgent need for longitudinal clinical follow-up with patients who undergo cancer genetic testing given the residual uncertainty. There is an increasing need for multidisciplinary translational research that focuses on how to advance precision medicine discoveries into clinical practice and to capitalize on connectivity (e.g. digital health) interventions in ways that optimize cancer risk reducing behaviors in real-world clinical populations.
METHODS: The overall goal of this Hybrid Type 1 effectiveness-implementation randomized study is to evaluate the effectiveness of the MyCancerGene intervention to improve longitudinal (short-term and long-term) understanding (e.g. knowledge) and reactions to (e.g. anxiety) clinical genetic testing compared to usual care. We hypothesize that access to MyCancerGene will be associated with short-term and post-disclosure increases in knowledge, decreases in distress, increases in communication with relatives and health care providers and performance of risk reducing health behaviors compared to usual care. Equally important, we hypothesize that our implementation process evaluation will inform recommendations for future adaptation and sustainability for other precision medicine applications.
DISCUSSION: Given the increasing complexity of genetic testing applications (e.g. multi-gene testing, whole exome sequencing) and the need for post-disclosure follow-up, we expect this study to inform evidence-based practice guidelines for delivery of genetic medicine and potentially change the paradigm to include longitudinal care in precision medicine. To address the clinically significant gap in the delivery of genetic medicine, patient and provider stakeholder input have been used to develop a patient and provider informed centered genetic digital health portal to enhance patient understanding of, and affective and behavioral responses to genetic testing, particularly in the era of evolving evidence and risk information.
TRIAL REGISTRATION: This protocol was registered at clinicaltrials.gov (NCT04774445) in February 18, 2021.
SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12885-025-14968-2.
Recommended Citation
Chavez-Yenter, Daniel; Fetzer, Dominique; Egleston, Brian; Domchek, Susan; Fleisher, Linda; Wagner, Lynne; Wen, Kuang-Yi; Karpink, Kelsey; Gutstein, Lauren; Posen, Shelby; Selmani, Enida; McLeod, Briana; Anantharajah, Arravinth; Brown, Sarah; Cacioppo, Cara; Cappadocia, Jacqueline; Ebrahimzadeh, Jessica; Falcone, Dana; Howe, Sarah; Langer, Claire; McCarthy-Wood, Beth; Weinberg, Michelle; and Bradbury, Angela, "The MyCancerGene Study: A Hybrid Type 1 Effectiveness-Implementation Randomized Study Comparing a Patient-Centered Digital Genetic Health Portal to Usual Care After Receipt of Cancer Genetic Testing" (2025). Department of Medical Oncology Faculty Papers. Paper 317.
https://jdc.jefferson.edu/medoncfp/317
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
PubMed ID
41136924
Language
English
Comments
This article is the author’s final published version in BMC Cancer, Volume 25, Issue 1, 2025, Article number 1642.
The published version is available at https://doi.org/10.1186/s12885-025-14968-2. Copyright © The Author(s) 2025.